ITPR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 148423	GRCh38/hg38 12p12.1-11.23(chr12:26202582-26720731)x3	LOC130007573, LOC130007574 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2495849	NM_002223.4(ITPR2):c.8087A>T (p.His2696Leu)	ITPR2 (H2696L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614320	NM_002223.4(ITPR2):c.7987C>G (p.Leu2663Val)	ITPR2 (L2662V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111778	NM_002223.4(ITPR2):c.7964C>T (p.Ser2655Leu)	ITPR2 (S2582L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411537	NM_002223.4(ITPR2):c.7918G>A (p.Asp2640Asn)	ITPR2 (D2567N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570480	NM_002223.4(ITPR2):c.7763A>G (p.Asn2588Ser)	ITPR2 (N2587S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337806	NM_002223.4(ITPR2):c.7724A>G (p.Lys2575Arg)	ITPR2 (K2575R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470059	NM_002223.4(ITPR2):c.7645A>G (p.Ser2549Gly)	ITPR2 (S2476G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111777	NM_002223.4(ITPR2):c.7589T>A (p.Ile2530Asn)	ITPR2 (I2457N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 189316	NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser)	ITPR2 (G2498S)	Single nucleotide variant (missense variant)	Isolated anhidrosis with normal sweat glands	GPathogenic
Select item 2281302	NM_002223.4(ITPR2):c.7432A>T (p.Thr2478Ser)	ITPR2 (T2478S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111776	NM_002223.4(ITPR2):c.7375C>G (p.Pro2459Ala)	ITPR2 (P2459A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550223	NM_002223.4(ITPR2):c.7328T>G (p.Met2443Arg)	ITPR2 (M2442R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286993	NM_002223.4(ITPR2):c.7088A>G (p.His2363Arg)	ITPR2 (H2362R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544039	NM_002223.4(ITPR2):c.7004G>A (p.Arg2335His)	ITPR2 (R2334H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740518	NM_002223.4(ITPR2):c.6966T>C (p.Phe2322=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381275	NM_002223.4(ITPR2):c.6833T>C (p.Leu2278Pro)	ITPR2 (L2278P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408523	NM_002223.4(ITPR2):c.6778T>C (p.Ser2260Pro)	ITPR2 (S2187P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358280	NM_002223.4(ITPR2):c.6692G>A (p.Ser2231Asn)	ITPR2 (S2231N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267856	NM_002223.4(ITPR2):c.6652G>A (p.Ala2218Thr)	ITPR2 (A2145T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111775	NM_002223.4(ITPR2):c.6613A>G (p.Asn2205Asp)	ITPR2 (N2204D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770228	NM_002223.4(ITPR2):c.6551C>G (p.Thr2184Ser)	ITPR2 (T2184S)	Single nucleotide variant (missense variant)	Isolated anhidrosis with normal sweat glands +1 more	GBenign/Likely benign
Select item 2609353	NM_002223.4(ITPR2):c.6521G>A (p.Arg2174Gln)	ITPR2 (R2174Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642803	NM_002223.4(ITPR2):c.6468G>A (p.Arg2156=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057471	NM_002223.4(ITPR2):c.6336C>G (p.Ala2112=)	ITPR2	Single nucleotide variant (synonymous variant +1 more)	ITPR2-related disorder	GLikely benign
Select item 2281229	NM_002223.4(ITPR2):c.6320A>T (p.Asn2107Ile)	ITPR2 (N2106I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038559	NM_002223.4(ITPR2):c.6309T>C (p.Asp2103=)	ITPR2	Single nucleotide variant (synonymous variant +1 more)	ITPR2-related disorder	GLikely benign
Select item 2366469	NM_002223.4(ITPR2):c.6272A>T (p.Asp2091Val)	ITPR2 (D2090V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789808	NM_002223.4(ITPR2):c.6123+4G>A	ITPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3111773	NM_002223.4(ITPR2):c.6103G>A (p.Asp2035Asn)	ITPR2 (D2035N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040542	NM_002223.4(ITPR2):c.6096C>T (p.Tyr2032=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 2405574	NM_002223.4(ITPR2):c.5948C>T (p.Ala1983Val)	ITPR2 (A1982V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3033955	NM_002223.4(ITPR2):c.5874T>C (p.Phe1958=)	ITPR2	Single nucleotide variant (synonymous variant)	ITPR2-related disorder	GLikely benign
Select item 2252352	NM_002223.4(ITPR2):c.5733G>A (p.Met1911Ile)	ITPR2 (M1910I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111772	NM_002223.4(ITPR2):c.5716G>A (p.Ala1906Thr)	ITPR2 (A1905T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111771	NM_002223.4(ITPR2):c.5708A>C (p.Glu1903Ala)	ITPR2 (E1903A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778587	NM_002223.4(ITPR2):c.5693C>T (p.Ala1898Val)	ITPR2 (A1898V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2322151	NM_002223.4(ITPR2):c.5665A>G (p.Ile1889Val)	ITPR2 (I1888V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051841	NM_002223.4(ITPR2):c.5583G>C (p.Glu1861Asp)	ITPR2 (E1860D +1 more)	Single nucleotide variant (missense variant)	ITPR2-related disorder	GLikely benign
Select item 3286987	NM_002223.4(ITPR2):c.5552G>C (p.Arg1851Thr)	ITPR2 (R1850T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371208	NM_002223.4(ITPR2):c.5550G>A (p.Met1850Ile)	ITPR2 (M1849I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271271	NM_002223.4(ITPR2):c.5546G>C (p.Arg1849Pro)	ITPR2 (R1849P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027139	NM_002223.4(ITPR2):c.5541T>A (p.Gly1847=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3111770	NM_002223.4(ITPR2):c.5513A>G (p.Asp1838Gly)	ITPR2 (D1837G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111769	NM_002223.4(ITPR2):c.5321G>C (p.Gly1774Ala)	ITPR2 (G1773A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531501	NM_002223.4(ITPR2):c.5215G>A (p.Gly1739Arg)	ITPR2 (G1738R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461003	NM_002223.4(ITPR2):c.5135T>A (p.Val1712Glu)	ITPR2 (V1711E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709610	NM_002223.4(ITPR2):c.5073+10T>A	ITPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3111768	NM_002223.4(ITPR2):c.4993G>A (p.Glu1665Lys)	ITPR2 (E1664K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712106	NM_002223.4(ITPR2):c.4962G>A (p.Ser1654=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3111767	NM_002223.4(ITPR2):c.4958T>C (p.Met1653Thr)	ITPR2 (M1652T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339164	NM_002223.4(ITPR2):c.4957A>G (p.Met1653Val)	ITPR2 (M1652V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111765	NM_002223.4(ITPR2):c.4929C>A (p.Ser1643Arg)	ITPR2 (S1643R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514087	NM_002223.4(ITPR2):c.4760G>A (p.Arg1587His)	ITPR2 (R1586H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234095	NM_002223.4(ITPR2):c.4759C>T (p.Arg1587Cys)	ITPR2 (R1587C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275428	NM_002223.4(ITPR2):c.4697G>A (p.Ser1566Asn)	ITPR2 (S1565N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348442	NM_002223.4(ITPR2):c.4640G>A (p.Arg1547His)	ITPR2 (R1547H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409309	NM_002223.4(ITPR2):c.4631C>T (p.Ala1544Val)	ITPR2 (A1543V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111764	NM_002223.4(ITPR2):c.4590A>C (p.Lys1530Asn)	ITPR2 (K1529N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742859	NM_002223.4(ITPR2):c.4566C>T (p.Cys1522=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533094	NM_002223.4(ITPR2):c.4493A>G (p.Asn1498Ser)	ITPR2 (N1498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727162	NM_002223.4(ITPR2):c.4453A>T (p.Asn1485Tyr)	ITPR2 (N1485Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 727163	NM_002223.4(ITPR2):c.4452G>T (p.Met1484Ile)	ITPR2 (M1484I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1300046	NM_002223.4(ITPR2):c.4407A>G (p.Lys1469=)	ITPR2	Single nucleotide variant (synonymous variant)	Isolated anhidrosis with normal sweat glands	GBenign
Select item 3286996	NM_002223.4(ITPR2):c.4388A>G (p.Asn1463Ser)	ITPR2 (N1462S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039900	NM_002223.4(ITPR2):c.4381-8C>T	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 1300047	NM_002223.4(ITPR2):c.4239C>T (p.Asp1413=)	ITPR2	Single nucleotide variant (synonymous variant)	Isolated anhidrosis with normal sweat glands	GBenign
Select item 3111763	NM_002223.4(ITPR2):c.4219G>C (p.Val1407Leu)	ITPR2 (V1407L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554409	NM_002223.4(ITPR2):c.4205C>T (p.Pro1402Leu)	ITPR2 (P1401L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270970	NM_002223.4(ITPR2):c.4162G>T (p.Gly1388Trp)	ITPR2 (G1388W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642804	NM_002223.4(ITPR2):c.4134G>C (p.Leu1378=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229791	NM_002223.4(ITPR2):c.4044T>G (p.Asp1348Glu)	ITPR2 (D1347E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111762	NM_002223.4(ITPR2):c.3913C>T (p.Arg1305Cys)	ITPR2 (R1304C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286989	NM_002223.4(ITPR2):c.3868G>A (p.Glu1290Lys)	ITPR2 (E1289K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725613	NM_002223.4(ITPR2):c.3867C>T (p.Ser1289=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539168	NM_002223.4(ITPR2):c.3834C>G (p.Phe1278Leu)	ITPR2 (F1278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642805	NM_002223.4(ITPR2):c.3824G>A (p.Arg1275Gln)	ITPR2 (R1274Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1300048	NM_002223.4(ITPR2):c.3801+23G>A	ITPR2	Single nucleotide variant (intron variant)	Isolated anhidrosis with normal sweat glands	GBenign
Select item 2481383	NM_002223.4(ITPR2):c.3737G>C (p.Cys1246Ser)	ITPR2 (C1245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473798	NM_002223.4(ITPR2):c.3706A>C (p.Asn1236His)	ITPR2 (N1236H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293467	NM_002223.4(ITPR2):c.3703A>G (p.Met1235Val)	ITPR2 (M1235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111761	NM_002223.4(ITPR2):c.3690G>T (p.Lys1230Asn)	ITPR2 (K1229N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286588	NM_002223.4(ITPR2):c.3686A>C (p.Glu1229Ala)	ITPR2 (E1228A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579735	NM_002223.4(ITPR2):c.3655C>A (p.Leu1219Ile)	ITPR2 (L1218I +1 more)	Single nucleotide variant (missense variant)	Isolated anhidrosis with normal sweat glands	GUncertain significance
Select item 2225754	NM_002223.4(ITPR2):c.3647T>C (p.Val1216Ala)	ITPR2 (V1215A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539550	NM_002223.4(ITPR2):c.3604C>G (p.Gln1202Glu)	ITPR2 (Q1202E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111759	NM_002223.4(ITPR2):c.3595T>G (p.Cys1199Gly)	ITPR2 (C1198G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293047	NM_002223.4(ITPR2):c.3590A>G (p.Lys1197Arg)	ITPR2 (K1197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642806	NM_002223.4(ITPR2):c.3588T>C (p.Asn1196=)	ITPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053351	NM_002223.4(ITPR2):c.3552+3C>T	ITPR2	Single nucleotide variant (intron variant)	ITPR2-related disorder	GLikely benign
Select item 714176	NM_002223.4(ITPR2):c.3539G>A (p.Arg1180Gln)	ITPR2 (R1180Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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